Audit of clinical characteristics and referral pathways for patients attending an endocrine-genetics clinic — ASN Events
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  3. Audit of clinical characteristics and referral pathways for patients attending an endocrine-genetics clinic

Audit of clinical characteristics and referral pathways for patients attending an endocrine-genetics clinic (#395)

Jonathan Vu 1 , Lucinda Salmon 2 , Alex Boussioutas 2 , Anthony W Russell 1 , Sarah Catford 1
  1. Department of Endocrinology , Alfred Health, Melbourne , VIC, Australia
  2. Department of Genetics and Genomics Services, Alfred Health, Melbourne, Victoria, Australia

Aims:  

Genetic testing plays a key role in the diagnosis, management and risk stratification of family members for those with suspected endocrine genetic conditions. It is important that clinicians and patients are made aware of indications and referral pathways for genetic testing. A specialised endocrine-genetics clinic was established at Alfred Health in 2023, to improve access to genetic testing. We aimed to evaluate referral pathways to our genetic clinic as well as detection rates of pathological variants for endocrine pathologies.    

Methods:  

We performed a retrospective audit of adults attending an endocrine genetics outpatient clinic at a tertiary centre from April 2023 to May 2026 inclusive to determine clinical pathways for patients. Clinical data were collected including referral time, endocrine condition investigated, genetic outcomes and relevant family history.  

Results:   

115 adults were referred (median age 38 [IQR 30-52]; female n=61 (51%)).  Median time from referral to initial review in clinic was 44 days [IQR 18.5-98]. 50% of referrals were from external endocrine clinics. The most common referrals were for monogenic diabetes (n=29, 25% pathogenic variant (PV) detection rate), Familial Hypocalciuric hypercalcaemia (n=16, 10% PV detection rate) and androgen disorders (n=16, 17% PV detection rate). Within the androgen disorder subgroup, 13 were referrals for Congenital Hypogonadotropic hypogonadism and accounted for all positive detections. Overall, 85% of patients were proband and 40% had relevant family history.  

Conclusion:  

These findings show establishing an endocrine genetics clinic has improved access to genetic testing for patients with suspected endocrine genetic conditions. Detection rates are in line with published yield of genetic testing. Many patients had relevant family history yet were proband in seeking testing, highlighting the need for appropriate referral pathways. These results provide insights into referral streams and may guide future service planning to improve provision of specialised endocrine-genetics care.